ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580102929
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1942484
ClinVar RCV Id:
RCV002646822
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000051.1:p.Val342Ala
CA2277407
NM_000060.4:c.1025T>C